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ABGC exam prep > Prenatal > Flashcards

Prenatal Flashcards

1
Q

What is associated with high hCG?

A
  • Turner syndrome
  • triploidy
  • T21
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2
Q

What is associated with large NT?

A
  • trisomy
  • skeletal dysplasias
  • Turner syndrome
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3
Q

What is associated with low ue3?

A
  • trisomy

- X-linked ichthyosis

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4
Q

What birth defects is retinoic acid associated with?

A
  • NTDs

- facial

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5
Q

What is the recurrence risk for NTDs after one child?

A

2-3%

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6
Q

What is associated with chiari malformation?

A
  • achondroplasia

- spina bifida

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7
Q

What genetic disorders is cystic hygroma associated with?

A
  • chromosome abnormalities
  • trisomy
  • Turner syndrome
  • Noonan syndrome
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8
Q

What non-genetic factors is cystic hygroma associated with?

A
  • virus

- alcohol

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9
Q

What ultrasound markers are associated most highly with T21?

A
  • duodenal atresia
  • ventriculomegaly
  • intracardiac echogenic focus
  • clinodactyly
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10
Q

What is associated with CPC?

A

T18

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11
Q

What is associated with holoprosencephaly?

A
  • T13
  • triploidy
  • Pallister-Hall
  • Rubinstein-Taybi
  • SLOS
  • Meckel
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12
Q

What is associated with echogenic bowel?

A
  • T21
  • CF
  • infection
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13
Q

What is associated with cleft lip + palate?

A
  • T18
  • T13
  • T21
  • 4p-
  • 22q11
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14
Q

What is the carrier frequency of Sickle cell in the African American population?

A

1/10

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15
Q

What are the diseases with the 4 highest carrier frequencies in the Ashkenazi Jewish population?

A
  • Gaucher: 1/15
  • CF: 1/29
  • Tay-Sachs: 1/30
  • Dysautonomia: 1/32
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16
Q

What is the carrier frequency of CF in the European american population?

A

1/29

17
Q

What are the risks of T21 for a woman at 35, 40, 45?

A

35: 1/300
40: 1/100
45: 1/35

18
Q

What does a T16 result on CVS mean?

A

must be CPM

19
Q

At what week does the neural tube close?

A

4th

20
Q

What percentages of individuals with cleft lip also have cleft palate?

A

50%

21
Q

Order the following in terms of higher to lower incidence of cleft lip +/- palate: Caucasian, Af. American, Asian

A

Asian>Caucasian>Af. American

22
Q

What environmental factors increase risk for cleft lip +/- palate?

A
  • antiepileptic drugs
  • retinoids
  • gestational diabetes
  • alcohol
  • smoking
23
Q

What percentage of cleft lip + palate cases are isolated?

A

70%

24
Q

What percentage of cleft lip alone cases are isolated?

A

50%

25
Q

What is the recurrence risk of CHD with affected parent/sibling?

A
  • parent: 2-6% (higher if mom)

- sibling: 2-3%

26
Q

What is the recurrence risk of schizophrenia with affected parent/sibling?

A
  • parent: 13%

- sibling: 9%

27
Q

What is the recurrence risk of manic depressive disorder with affected parent/sibling?

A
  • parent: 15%

- sibling: 13%

28
Q

What is the recurrence risk of autoimmune disease with affected parent/sibling?

A

both: 3-5%

29
Q

What is the recurrence risk of cleft lip + palate with affected parent/sibling?

A
  • parent: 4%

- sibling: 2%

30
Q

What is the recurrence risk of isolated cleft lip with affected parent/sibling?

A
  • parent: 3%

- sibling: 2%

31
Q

What percentage of first trimester losses are chromosomally abnormal?

A

50%

32
Q

Where do the chromosomes come from in a complete mole?

A

father

33
Q

What is the genetic makeup of a partial mole?

A

triploid, usually due to dispermy

34
Q

anencephaly

A

absent parts of brain and skull; type of NTD

35
Q

choroid plexus cyst

A

a “cyst” in the part of the brain that makes the cerebrospinal fluid which is really a bubble;
present in 1-2% of normal fetuses

36
Q

Dandy-Walker

A

a condition that affects brain development and usually involves hydrocephalus
not well characterized genetically; may be caused by environmental factors

37
Q

holoprosencephaly

A

single-lobed brain structure and severe skull and facial defects

38
Q

spina bifida

A

failure of spinal to close properly leading to nerve damage and varying degrees of paralysis

39
Q

pentalogy of Cantrell

A

5 findings: (just 2-3 required for condition_

  • deficiency in diaphragm
  • defect in abdomen above belly button
  • defect in pericardium of diaphragm
  • various CHDs
  • defect in sternum

ABGC exam prep (11 decks)

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